1197430005: Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 28-Feb 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

4696316014 QRSL1-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696417018 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696418011 Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

4696317017 A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4696318010 A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
QRSL1-related combined oxidative phosphorylation defect	est un(e) (attribut)	Disorder of mitochondrial respiratory chain complexes	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	est un(e) (attribut)	Mitochondrial cytopathy	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	est un(e) (attribut)	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	est un(e) (attribut)	Hypertrophic mitochondrial cardiomyopathy (disorder)	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	est un(e) (attribut)	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
QRSL1-related combined oxidative phosphorylation defect	Due to	Mitochondrial cytopathy	true	Inferred relationship	Some	3
QRSL1-related combined oxidative phosphorylation defect	survenue (attribut)	congénital	true	Inferred relationship	Some	2
QRSL1-related combined oxidative phosphorylation defect	localisation d'une constatation (attribut)	structure du myocarde	true	Inferred relationship	Some	1
QRSL1-related combined oxidative phosphorylation defect	morphologie associée (attribut)	hypertrophie	true	Inferred relationship	Some	1

Inbound Relationships

Characteristic

Refinability

Reference Sets

Canada English language reference set (foundation metadata concept)

Description inactivation indicator reference set

GB English

US English

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
4696316014	QRSL1-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696417018	Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696418011	Glutaminyl-transfer ribonucleic acid amidotransferase subunit-related combined oxidative phosphorylation defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
4696317017	A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep grey matter structures on brain MRI have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4696318010	A rare mitochondrial disease with characteristics of prenatal or early infantile onset of severe cardiomyopathy, failure to thrive and global developmental delay, sensorineural hearing loss and severe lactic acidosis. Hepatic involvement and adrenal insufficiency, as well as encephalopathy and anomalies of deep gray matter structures on brain MRI have also been reported.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core